Q57* (p.Gln57Ter) variant of NOTCH3 (Q9UM47)
Q57* (p.Gln57Ter) in NOTCH3 (Q9UM47) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs1555730187
- ClinGen CA404483361
- ClinVar RCV003326718
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.15
- MetaLR 0.81
- MetaSVM 0.31
- PolyPhen-2 0.03
- SIFT 0.91
- MutPred 0.57
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)